Human

CRYAB - Crystallin Alpha B

Alias:
MFM2
CRYA2
CTPP2
HSPB5
CMD1II
CTRCT16
HEL-S-101
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6
3
15177 bp
20.16
242
10
5
40

CRYAB Genetics information (-)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.

Gene Expression

Tissue-specific RNA expression

Organ
Abundance
Alphabetical

Cell-specific RNA expression

Organ
Abundance
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
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